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September 25, 2026European Journal of Human GeneticsOpen Access

Biallelic DAW1 variants reveal a tissue-specific role in heterotaxy without primary ciliary dyskinesia

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Authors

DUDana UrbatschAJAnburaj JeyarajSBShruti Bedekar

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Urbatsch et al. (2026) studied this question.

synapsesocial.com/papers/6ab60f7f406bf401c146803fhttps://doi.org/10.1038/s41431-026-02228-1
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Variants in the DNAH11 gene responsible for primary ciliary dyskinesia or probably atypical primary ciliary dyskinesia presenting left-right asymmetry disorder2026
  2. 2DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia2016 · 141 citations
  3. 3Report of a Homozygous Nonsense Variant in the <scp> <i>WDR91</i> </scp> Gene Associated With Severe Communicating Hydrocephalus, Dandy Walker Malformation, and Cerebellar Hypoplasia2026
  4. 4Loss-of-function variants in ODAD1 disrupt ODA docking and induce actin cytoskeletal remodeling in primary ciliary dyskinesia2026
  5. 5Biallelic variants in <i>DNAH10</i> are associated with skeletalf developmental abnormalities and ciliary dysfunction2026